Scientists in England have shed further light on the genetic causes of neonatal diabetes, a very rare condition that affects 1 in 100,000 births.
Neonatal diabetes is caused by a genetic mutation which affects the body’s production of insulin, causing sharp rises in blood glucose levels among infants.
A number of genetic causes of neonatal diabetes have been identified in the past, and now researchers at the University of Exeter Medical School – the leading centre for neonatal diabetes – have added to this list with their findings, which show the disease can be triggered by mutations in two specific genes that are important for the development of the pancreas.
The study, published this week in the journal Cell Metabolism, focussed on 147 young people with neonatal diabetes. Of those, 110 received a genetic diagnosis while the remaining 37 patients were screened for mutations in genes closely linked with pancreatic development.
A total of 11 patients were found to have genetic mutations, four of which were in one of two genes not previously known to cause neonatal diabetes (NKX2-2 and MNX1).
The researchers said knowing the exact cause of diabetes will not only lead to better treatment for patients who received a genetic diagnosis, but will also provide important information for all patients on the risk of neonatal diabetes in future pregnancies.
“We are very proud to be able to give answers to the families involved on why their child has diabetes,” said Dr Sarah Flanaga, lead author of the study.
“Neonatal diabetes is diagnosed when a child is less than six months old, and some of these patients have added complications such as muscle weakness and learning difficulties with or without epilepsy.
“Our genetic discovery is critical to the advancement of knowledge on how insulin-producing beta cells are formed in the pancreas, which has implications for research into manipulating stem cells, which could one day lead to a cure.”

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